Oroacral Syndrome, Verloes-Koulischer Type

Verloes and Koulischer (1992) reported the case of a woman with absence of the medial part of the upper alveolar ridge, including the gingiva, frenulum, and tooth buds for the maxillary incisors and canines. The designation Verloes-Koulischer oroacral (VKOA) syndrome was suggested in the London dysmorphology database. Cohen (1992) reported the case of a boy with absent maxillary incisors and canines and asymmetric defects of the hands and left first and second toes. The facial appearance in these 2 cases were similar, with a receding upper lip and relative mandibular prognathism. Neither had a cleft of the palate or lip, or anomaly of the tongue. De Silva and Verloes (1998) described a 9-year-old Sinhalese boy with similar findings: midface hypoplasia with a depressed upper lip and relative mandibular prognathism; absence of the upper midline alveolus, frenulum, and gingiva; absent maxillary incisors and right canine; absent left second and third digits with a soft tissue nubbin at the position of the index finger and the third finger with a malformed proximal phalanx only. A vascular etiology causing secondary disruption of an area of the maxilla and the tooth buds as well as the limbs was suggested in the previous cases and was compatible with the mechanism sometimes evoked for amniotic bands syndrome (217100), Hanhart syndrome (103300), and the induced limb defects occurring as a complication of chorionic villus sampling (Lipson and Webster, 1993).